About: eye abnormalities

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

congenital absence of or defects in structures of the eye

Attributes	Values
rdf:type	Item
description	congenital absence of or defects in structures of the eye (en)
exact match	wds:Q54911717-0C76C9C9-A655-4505-B627-E1DBAB4C2153
exact match	http://www.orpha.net/ORDO/Orphanet_98553
health specialty	wds:Q54911717-E07CD8EF-D862-4445-908F-A12008204FCA
ICD-10	wds:Q54911717-7c40628e-41ea-7ff4-a66a-bc9dad8dba10
Mondo ID	wds:Q54911717-B0D5E5BA-680D-460A-B0CD-C446AEA9E7C0
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0020145
health specialty	ophthalmology
ICD-10	Q15.9
Mondo ID	MONDO_0020145
rdfs:label	eye abnormalities (en) malformation oculaire (fr) nepravilnosti oči (sl) okula nenormaleco (eo)
skos:prefLabel	eye abnormalities (en) malformation oculaire (fr) nepravilnosti oči (sl) okula nenormaleco (eo)
name	eye abnormalities (en) malformation oculaire (fr) nepravilnosti oči (sl) okula nenormaleco (eo)
instance of	wds:Q54911717-59372ACA-472F-4E56-ADC6-0978E343CDEB wds:Q54911717-B64F7F95-1ED1-4965-9D66-4F130280EF7E
instance of	class of disease developmental defect during embryogenesis
subclass of	wds:Q54911717-54EC88B5-2854-4D01-B4DD-7EBF320D2AA6 wds:Q54911717-5db5fc9c-4a5b-f4a8-ed1c-fc072176b2b7 wds:Q54911717-A8C78530-FB33-4361-B29A-0892543C9DE7 wds:Q54911717-ECC671E5-BE70-4412-83C3-DB326AFB290A
subclass of	eye disease developmental defect during embryogenesis rare genetic developmental defect during embryogenesis rare genetic eye disease
Orphanet ID	wds:Q54911717-5873E9B8-540F-4DDB-95D0-124244805755
Orphanet ID	98553
Medical Dictionary...ory Activities ID	wds:Q54911717-0996003A-A855-4CE4-AAE4-B5D85D34173C
Medical Dictionary...ory Activities ID	http://purl.bioontology.org/ontology/MDRFRE/10015949
Medical Dictionary...ory Activities ID	10015949
skos:altLabel	anomalie de l'œil (fr) developmental defect of the eye (en) eye abnormality (en)
UMLS CUI	wds:Q54911717-20F5FDFD-C60B-4275-BE58-58E62F5E3592 wds:Q54911717-89272B03-014B-446C-805C-707252BB210A
MeSH descriptor ID	wds:Q54911717-8B074DE3-C32A-4C4C-8881-D51F525812AC
MeSH tree code	wds:Q54911717-97FC49E0-832C-4404-85E6-5053D6602869 wds:Q54911717-BB4503AE-41C8-46DD-BC60-6E1684397FFA
ICD-11 (foundation)	wds:Q54911717-00AD8DB5-B326-4582-8281-DFD20FA26AFB wds:Q54911717-086fde56-43b8-dff8-f555-993d23b7c34f
topic's main category	wds:Q54911717-5479d90a-4208-deb6-d7b8-1546ed52cf52
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/D005124
MeSH tree code	http://id.nlm.nih.gov/mesh/C11.250 http://id.nlm.nih.gov/mesh/C16.131.384
UMLS CUI	C0015393 C5681657
MeSH descriptor ID	D005124
MeSH tree code	C11.250 C16.131.384
ICD-11 (foundation)	1981704094 750435296
topic's main category	Category:Congenital disorders of eyes
is owl:sameAs of	eye abnormalities
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q54911717
is subclass of of	Collie eye anomaly microphthalmia syndromic developmental defect of the eye rare eye disease due to a differentiation anomaly microcornea-myopic chorioretinal atrophy-telecanthus syndrome choroidal effusion macrophthalmia non-syndromic developmental defect of the eye major induction processes eye anomaly microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
is subclass of of	wds:Q55784726-AB48047C-D60E-454A-BC97-9F594A478C7F wds:Q55789154-3E221702-5355-4495-B043-09217776268E wds:Q104213447-70bb78a4-4b0c-ea00-2ca2-306309cf1eff wds:Q1557239-8872d894-4a66-366e-d1d3-49c56c2fef02 wds:Q55785336-66169722-CB05-4E2C-BD0B-51E4AF3B9D76 wds:Q55785335-4FE0E4B9-56CC-448E-A19F-FDA81E1F1210 wds:Q114431226-fd9414c9-4e4a-b564-785f-cf7780fed8ec wds:Q946356-858c1512-4b53-b77c-0eca-e6e6970477d9 wds:Q55789151-4DAF2D06-055E-4B70-8F01-8336DF5DFCAB wds:Q55786273-6934D592-72D8-473B-8638-EE0CCE9A4FAC
is main subject of	Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment Congenital Anomalies in Duane's Retraction Syndrome Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities EEG Recognition of Aicardi's Syndrome Melnick-Needles Syndrome Cleft Lip and Chorioideal Coloboma Associated with Multiple Hypothalamo-Pituitary Dysfunctions Ankyloblepharon Filiforme Adnatum Epidemiological Observations on bovine viral diarrhea-mucosal disease virus-induced congenital cerebellar hypoplasia and ocular defects in calves Oculo‐facio‐cardio‐dental syndrome: Skewed X chromosome inactivation in mother and daughter suggest X‐linked dominant Inheritance Lack of collagen XVIII/endostatin results in eye abnormalities Ocular Abnormalities in the Cri Du Chat Syndrome Tumorigenesis and eye abnormalities in transgenic mice expressing MSV-SV40 large T-antigen. Syndrome of ocular and facial anomalies, telecanthus, and deafness Norrie's disease--differential diagnosis and treatment Persistent hyperplastic primary vitreous. A clinicopathologic study of 62 cases and review of the literature An unusual syndrome: colobomatous disorder of the eyeball, anal atresia, multiple congenital anomalies and presence of an extra chromosome

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